Cytogenomic characterization of 1q43q44 deletion associated with 4q32.1q35.2 duplication and phenotype correlation.

BACKGROUND: Microdeletion of 1q43q44 causes a syndrome characterized by intellectual disability (ID), speech delay, seizures, microcephaly (MIC), corpus callosum abnormalities (CCA) and characteristic facial features. Duplication of 4q is presented with minor to severe ID, MIC and facial dysmorphism. We aimed to verify the correlation between genotype/phenotype in a patient with 1q43q44 deletion associated with 4q32.1q35.2 duplication. CASE PRESENTATION: We report on a 3 year-old female patient with delayed motor and mental milestones, MIC and facial dysmorphism. She is a child of non-consanguineous parents and no similarly affected family members. CT brain showed abnormal gyral patterns, hypogenesis of corpus callosum and bilateral deep Sylvian fissure. Electroencephalogram showed frontotemporal epileptogenic focus. Her karyotype was revealed as 46,XX,add(1)(q44). Fluorescence in situ hybridization (FISH) using whole chromosome paint (WCP1) and subtelomere 1q revealed that the add segment was not derived from chromosome 1 and there was the deletion of subtelomere 1q. Multiple ligation probe amplification (MLPA) subtelomere kit revealed the deletion of 1q and duplication of 4q. Array CGH demonstrated the 6.5 Mb deletion of 1q and 31 Mb duplication of chromosome 4q. CONCLUSION: The phenotype of our patient mainly reflects the effects of haploinsufficiency of AKT3, HNRNPU, ZBTB18 genes associated with duplication of GLRA3, GMP6A, HAND2 genes. Patients presented with ID, seizures, MIC together with CCA are candidates for prediction of 1q43q44 microdeletion and cytogenomic analysis.

Action of some micronutrients on the infestation and yield components of faba bean by the aphid, Aphis craccivora Koch (Aphididae, Homoptera) and the leaf miner, Liriomyza trifolii (Burgess) (Agromyzidae, Diptera).

Field experiments were carried out in the two growing seasons of 1999/2000 and 2000/2001 on faba bean (Vicia faba) plants in the Experimental Farm of Agriculture Research Station at Nubaria region, Alexandria, which is considered as a newly reclaimed calcareous soil. The present investigation aimed to evaluate the effect of spraying faba bean plants with certain micronutrients, i.e. Iron, Manganese and Zinc either in single double or triple combinations on the infestation by the aphid, Aphis craccivora Koch (Aphididae, Homoptera) and the leaf miner, Liriomyza trfolü (Burgess) (Agromyzidae, Diptera). The infestation by these insects was assessed using the parameters of Infestation grades as well as the injury indices. Faba bean plants cv. Giza Blanca were sprayed twice (45 and 66 days) after planting with the above-mentioned micronutrients. However, results of this investigation showed, with no doubt, that Mn, Zn and Fe individually or in double or triple combinations have increased to varied extents the infestation rates (%) of faba bean plants compared to the untreated ones. Such varied increases were mainly due to the metabolic roles of the used foliar sprays and their interactions, which indirectly affect the physio-biological actions of plants that may render them suitable for either A. craccivora or L. trifoii reproduction. This phenomenon might be also due to the different environmental factors. In both seasons, the relationship between nutrients applications and pests Infestation followed the same trend of increase in the percentages of infested plants. This assures and confirms the constant metabolic roles of such micronutrients. The biological seed weight (ton/fed.) was positively affected by the application of the used micronutrients. It is worth mentioning that the maximum response was observed in case of the triple treatment followed by the double and single treatments in a descending order. Application of the investigated micronutrients alone or in mixtures resulted in significant increases in yield and its components. Such increases were due to the fact that ions of Zn, Fe and Mn are cofactors of several enzymes, but rarely if ever with a high degree of specificity.

Premarital genetic investigations: effect of genetic counselling.

Over a period of 2 years, 86 couples (172 cases) were referred to the genetics clinic of the National Research Centre for premarital genetic counselling. About 73.25% had a family history of different genetic disorders. Consanguinity was found in 86.04%. Genetic investigations revealed chromosomal abnormalities in 26 cases (15.11%); 23 cases (13.37%) had other abnormal results. After genetic counselling, postconceptional follow-up was carried out for 30 couples; 10 of them required amniocentesis that showed abnormal fetuses in 2 mothers. Other couples had normal offspring. We conclude that premarital genetic counselling is of great use in the detection of genetic disorders and is an essential step in changing attitudes towards premarital testing and reducing consanguineous marriage.

Premarital genetic investigations: effect of genetic counselling

Over a period of 2 years, 86 couples [172 cases] were referred to the genetics clinic of the National Research Centre for premarital genetic counselling. About 73.25% had a family history of different genetic disorders. Consanguinity was found in 86.04%. Genetic investigations revealed chromosomal abnormalities in 26 cases [15.11%]; 23 cases [13.37%] had other abnormal results. After genetic counselling, postconceptional follow-up was carried out for 30 couples; 10 of them required amniocentesis that showed abnormal fetuses in 2 mothers. Other couples had normal offspring. We conclude that premarital genetic counselling is of great use in the detection of genetic disorders and is an essential step in changing attitudes towards premarital testing and reducing consanguineous marriage

Multipass cell for molecular beam absorption spectroscopy.

We report a two-spherical mirror multipass cell which allows efficient coupling of a laser beam to a collimated molecular beam at the center of the cell. With near-concentric alignment and the laser beam coupled into and out of the cell at the edges of opposite mirrors, an approximately parabolic pattern of reflections is observed on each mirror. Aligned for forty to fifty passes, the cell is used for direct absorption spectroscopy of jet-cooled acetylene, propyne, and 1-butyne in the 3-microm region. Sub-Doppler linewidths as narrow as 12 MHz have been recorded.